Canonical Allele Identifier: CA454609812
Gene: GCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2921212
ClinVar RCV Id: RCV003740627
dbSNP Id: rs1444660066
MyVariant Identifiers: chr7:g.44190606C>A (hg19) chr7:g.44151007C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44151007C>A , CM000669.2:g.44151007C>A GRCh38
NC_000007.13:g.44190606C>A , CM000669.1:g.44190606C>A GRCh37
NC_000007.12:g.44157131C>A NCBI36
NG_008847.1:g.43417G>T
NG_008847.2:g.52164G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395796.8:c.*430G>T ENSP00000379142.4:n.*430G>T
ENST00000616242.5:c.432G>T ENSP00000482149.2:p.Leu144=
ENST00000682635.1:n.918G>T
ENST00000345378.7:c.435G>T ENSP00000223366.2:p.Leu145=
ENST00000403799.8:c.432G>T MANE Select ENSP00000384247.3:p.Leu144=
ENST00000671824.1:c.432G>T ENSP00000500264.1:p.Leu144=
ENST00000673284.1:c.432G>T ENSP00000499852.1:p.Leu144=
ENST00000345378.6:c.435G>T ENSP00000223366.2:p.Leu145=
ENST00000395796.7:c.429G>T ENSP00000379142.3:p.Leu143=
ENST00000403799.7:c.432G>T ENSP00000384247.3:p.Leu144=
ENST00000437084.1:c.381G>T ENSP00000402840.1:p.Leu127=
ENST00000616242.4:c.429G>T ENSP00000482149.1:p.Leu143=
NM_000162.3:c.432G>T NP_000153.1:p.Leu144=
NM_033507.1:c.435G>T NP_277042.1:p.Leu145=
NM_033508.1:c.429G>T NP_277043.1:p.Leu143=
NM_000162.4:c.432G>T NP_000153.1:p.Leu144=
NM_001354800.1:c.432G>T NP_001341729.1:p.Leu144=
NM_033507.2:c.435G>T NP_277042.1:p.Leu145=
NM_033508.2:c.429G>T NP_277043.1:p.Leu143=
NM_000162.5:c.432G>T MANE Select NP_000153.1:p.Leu144=
NM_033507.3:c.435G>T NP_277042.1:p.Leu145=
NM_033508.3:c.429G>T NP_277043.1:p.Leu143=
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